Linked Data
gnomAD v4:
6-53545259-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53545259G>T , CM000668.2:g.53545259G>T | GRCh38 |
| NC_000006.11:g.53410057G>T , CM000668.1:g.53410057G>T | GRCh37 |
| NC_000006.10:g.53518016G>T | NCBI36 |
| NG_012071.1:g.4775C>A | |
| NG_012071.2:g.4871C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616923.5:c.-10+2797C>A | ENSP00000482756.2:n.-10+2797C>A | |
| ENST00000505197.1:c.-10+18858C>A | ENSP00000427403.1:n.-10+18858C>A |